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Medicine Biotech

In 26 Hours, Sick Newborns Go From Genome Scan To Diagnosis (ieee.org) 92

the_newsbeagle writes: Parsing the first human genome took a decade, but times have changed. Now, within 26 hours, doctors can scan a sick baby's entire genome and analyze the resulting list of mutations to produce a diagnosis. Since genetic diseases are the top cause of death for infants (abstract), rapidly diagnosing a rare genetic disease can be life-saving. The 26-hour pipeline results from automated technologies that handle everything from the genome sequencing to the diagnosis, says the doctor involved: "We want to take humans out of the equation, because we're the bottleneck."
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In 26 Hours, Sick Newborns Go From Genome Scan To Diagnosis

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  • by damn_registrars ( 1103043 ) <damn.registrars@gmail.com> on Wednesday October 14, 2015 @01:23PM (#50727577) Homepage Journal
    If the insurance pays for a full genome scan, they will want to see the results. And then before you know it, they will be tagging as many conditions as possible as "pre-existing" and using that to justify partial / no coverage for them once the newborn is home.

    Yeah, it's great to know the information, but it sets you up for a lifetime of getting fucked by the insurance companies (not that the 2010 "affordable care act" didn't set that up regardless).
    • by Anonymous Coward

      "Gattaca"

    • by beelsebob ( 529313 ) on Wednesday October 14, 2015 @01:32PM (#50727655)

      Simple solution - socialise your healthcare.

      • I don't know if you're being serious (in which case you are the one other liberal on slashdot aside from myself) or not (in which case you are parroting the majority in your parody). I have been calling for single-payer socialized medicine in the US for decades myself. From my vantage point the 2010 bill is the largest corporate handout in the history of government, and it made many things much worse.
        • by jedidiah ( 1196 ) on Wednesday October 14, 2015 @01:39PM (#50727725) Homepage

          ...although it did nullify the "pre-existing conditions" problem.

          So we don't have to force everyone to be stuck with the crapulence of Medicare, Medicaid, Disability, or the VA in order to solve this particular problem.

          As someone with such a condition, the LAST thing I want is to be in the clutches of any sort of American variation on socialized medicine.

          • Crapulence? Methinks you have zero experience with it. I've worked internationally (including several years in Canada) and socialized medicine is better quality yet half the total cost for 95% of citizens. Capitalism doesn't work when you can't shop around... and even if you could, how long will you shop around and ask for quotes while you're child is screaming bloody murder due to a broken arm? Medicine and Capitalism are oil and water.

          • ...although it did nullify the "pre-existing conditions" problem.

            So we don't have to force everyone to be stuck with the crapulence of Medicare, Medicaid, Disability, or the VA in order to solve this particular problem.

            As someone with such a condition, the LAST thing I want is to be in the clutches of any sort of American variation on socialized medicine.

            I'm an American benefiting from French socialized medicine and I think Americans are (excuse the French, as the expression goes) absolutely out of your/our fucking minds for not socializing medicine.

        • it made many things much worse

          It was definitely a corporate handout by congress (and also, not what Obama asked for... hence I never call it "ObamaCare"), but it also definitely made some things better. I know quite a few people who have healthcare for the first time in many years, some of them with pre-existing conditions, others who simply couldn't afford it. Care ranging from from a CPAP mask to a much-needed case of testosterone therapy. In fact, if it hadn't been for the malfuckery of the Montana rep

        • by Opportunist ( 166417 ) on Wednesday October 14, 2015 @02:58PM (#50728561)

          Living in a country with socialized heathcare, I can say with some certainty that people may have different opinion on many things around here, but if you dared talking about taking it away, you could as well try to teach creationism in schools. The effect would probably be the same, people of all political parties would demand to have you removed.

          Not from office. From the gene pool.

        • by Anonymous Coward

          (in which case you are the one other liberal on slashdot aside from myself)

          Why do so many people on Slashdot cling to the obviously false narrative that they're one of the very few liberals/conservatives on a site that is overwhelmingly filled with right-wing nutjobs/commie pinkos?

      • by Terwin ( 412356 )

        Simple solution - socialise your healthcare.

        Having seen how thoroughly the US government has botched other social programs, and the amount of bureaucratic over-head caused by every congressperson trying to get cut-outs for their donors(and occasionally for their voters), I cannot see US socialized medicine as a viable option.

        Other countries have managed to do this with more or less success, but so long as the US government continues to treat its citizens as enemies, those citizens are unlikely to (and probably should not) trust that same government

    • they will be tagging as many conditions as possible as "pre-existing" and using that to justify partial / no coverage

      That is illegal in the United States, and in all other first world countries.

      • if the powers with your government in their pocket want things differently, it will be so.

        • by bws111 ( 1216812 )

          Oh, aren't you so clever coming up with an insightful statement like that! So smart!

          In all of Congress (House and Senate) there was exactly ONE vote against making it illegal. That vote was from loony toon (and slashdot favorite) Ron Paul. That law isn't going anywhere.

        • by Anonymous Coward

          if the powers with your government in their pocket want things differently, it will be so.

          Those powers were okay with it, since in trade they got congress to force the entire population of the U.S. to be "customers", or face a fine. The whole ACA was written by their lobbyists so it was their idea anyways.

    • by Anonymous Coward on Wednesday October 14, 2015 @01:46PM (#50727807)

      Yeah there are some ethical reasons not to have a compulsory genome sequence for every newborn in 2015 but the benefits would be amazing. Diagnosis of childhood ailments is just one of them. (Baby mix-ups would be a thing of the past too)

      But do you know the real reason we don't do it?

      Every time a program like that has been tried a very very uncomfortable fact always becomes clear very fast - The father listed on the birth certificate often doesn't match the genome scan. Something to the tune of 15-30% of the time, even in the nice middle-to-upper class white suburban hospitals where such things get trialed.

      We humans like to sleep around a lot. We just don't like to admit it.

      • by Quirkz ( 1206400 )

        15-30% seems high. Something I was reading recently suggested 5% was more typical. Struggling to remember my source - possibly the book "Before the Dawn"?

    • The jail / prison covers pre-existing conditions and I think at most all you have pay it you can is a $3-$8 copay.

      Also the The jail / prison covers stuff that the ER does not and free room + board is on the side.

    • before you know it, they will be tagging as many conditions as possible as "pre-existing" and using that to justify partial / no coverage for them once the newborn is home.

      That's illegal under the 2008 Genetic Information Nondiscrimination Act [wikipedia.org], which prevents insurers from using genetic predispositions in the determination of insurance coverage/premiums.

      • by fyngyrz ( 762201 )

        It's illegal to consider many things about a job applicant, too, but very often, the pretty lady who shows up dressed to kill will still likely get the job over the ugly duckling with the tattoo on her neck, qualifications aside. The white guy will still likely get the job over the black guy, qualifications aside. The guy will still likely get the job over the woman, qualifications aside. VW will still build emissions systems that are out of spec. It's all illegal. It happens anyway. And so will insurance c

        • by Qzukk ( 229616 )

          I've always been curious how things would have turned out if some kid had broken Bastiat's leg instead of his window [wikipedia.org], because a large portion of the money spent on healthcare is nothing but maintenance as Bastiat would have seen it.

        • by Kjella ( 173770 )

          It's illegal to consider many things about a job applicant, too, but very often, the pretty lady who shows up dressed to kill will still likely get the job over the ugly duckling with the tattoo on her neck, qualifications aside. The white guy will still likely get the job over the black guy, qualifications aside. The guy will still likely get the job over the woman, qualifications aside. VW will still build emissions systems that are out of spec. It's all illegal. It happens anyway.

          Sure, a lot of things are illegal. But test results and patient journals won't magically end up on the insurer's hands. They can't be used for risk scoring or denying coverage unless someone builds that into the system. A lot of people would have to get involved and if they're caught they're going to be raked over the coals like VW is now, sure it might happen but it's a lot harder than information you obviously know because you've met the job candidate and you only have to be obtuse or disguise the true re

    • You make a really good argument for national health care coverage from birth to death, like in the rest of the developed world. Removing the two words "over 65" from the original Medicare bill would pretty much fix the problem. Pay for it by shutting down most overseas military bases, which do nothing for the American people (unless you get one of those cost-plus no bid base building contracts).

    • It doesn't usually work like that.

      If you get a genome scan you learn you have a higher chance of developing certain problems. That doesn't make those problems an existing condition.

    • However, in the USA, pre-existing conditions are no longer a reason to deny coverage. The Affordable Care Act made it a moot point.

    • And liberals are perfectly happy slaughtering that baby the day before it was born, for any reason

      not a far slide to kill that baby the day after its born to keep Obamacare solvent.
    • If the insurance pays

      As a non-American it struck me as both funny and sad the first thought/comment on here was about insurance and who pays for all this. Of course that's a consideration, but not at all primary when thinking about the benefits of this technology.

      It really is nonsensical by now - just go single payer, it makes too much sense. Readily available data from many countries show it is actually (gasp!) cheaper and provides better outcomes. Well, save for the handful of people rich enough to buy all the doctors,

  • They currently won't even pay for cytochrome P450 tests, and those are used to screen for metabolism differences that affect drug clearance/pharmacokinetics and can literally kill someone.

  • Keeping people alive you know are faulty is kinda senseless unless you have ways to fix the problems.

    I know this attitude is harsh and frankly, I myself probably wouldn't have made the cut either... but seeing as we're 8 billion getting more feeble with every generation... I don't know... this just doesn't seem like a very good trend.

    • Keeping people alive you know are faulty is kinda senseless unless you have ways to fix the problems.

      As a poster-child for the counterpoint: Stephen Hawking

      Evolution and natural selection for stronger individuals is a thing. Has been a thing. But in no way does that imply that we can't make decisions for ourselves now that we have some idea what we're doing. That's without even considering the fact that we're going to be able to fix all this stuff in fairly short order, in terms of evolutionary time scales

    • by drfishy ( 634081 )
      I used to think this. I changed my mind when I starting thinking about all the tech we've developed as a result of our desire to fix those problems. I think our desire to help those who can't help themselves is ultimately a good evolutionary direction even though it can seem like a waste of resources in some cases.
    • Keeping people alive you know are faulty is kinda senseless unless you have ways to fix the problems.

      That is an extremely short-signed view.

      I thought ST:TNG did a good job of explaining this in both "The Enemy" and "The Masterpiece Society": The technology used to help a blind baby see was adaptable to other solutions where otherwise "unfaulty" people would benefit.

      A review of key historical figures will reveal many with physical issues from birth.

      The ability of a person to contribute to society, directly or indirectly, is impossible to predict.

    • And how do you define "faulty?" If the baby has a terminal condition that will result in his death in 2-4 years? If the baby has genes that predispose him to have childhood cancer when he is 9? If the baby has autism? If the baby might develop epilepsy? If the baby will develop Alzheimer's when he is and old man? If the baby has brown eyes because blue eyes are so much better? If the baby is too short? If the baby is too fat?

      Defining people as being "faulty" and declaring that you won't keep those p

      • You struck upon one example as well. Autism can be a gift or a curse depending on your perspective. Many people with autism score very high on intelligence, some are left brain, some are right brain, but all seem to be very smart. Many of the best artists have autism, and many of the smartest scientists are autistic.

        Not every "negative" has no positives.

        • I included the autism reference on purpose as I'm the parent of a child with Asperger's Syndrome/High Functioning Autism. He has plenty of issues (especially with socialization which doesn't come as naturally to him as it does to others), but he also has plenty of strengths that I don't see in neurotypical (not autistic) kids. It angers me to no end when someone calls people with autism "broken", especially people from the anti-vaccination movement who all but declare that kids are better off dead of vacc

          • I am aware of the condition, I grew up with it, and am raising two sons with it myself. They changed the diagnosis so that Asperger's no longer exists as a distinct diagnosis, it is all autism spectrum now.

            • We got my son's diagnosis before the DSM V came out, but when people were aware that Asperger's was going to go away as a separate diagnosis. That's why our diagnosis read "Asperger's Syndrome/High Functioning Autism" - so that we wouldn't have any problems obtaining services in the future.

              I also grew up with Asperger's Syndrome/Autism. All signs point to me being undiagnosed but on the spectrum. Back when I was young, I was just told I was "shy" (not really, I wanted to converse but didn't know how) and

  • Which usually leads to a lifetime of huge medical costs.

    In a system of collective health care (after all, that's what "insurance" is), we can't pay for *everything*, and hard, heart-wrenching choices must be made.

    • by tnk1 ( 899206 )

      All health care is eventually a black hole that you throw money down and have it disappear. I don't think we should really be in it for the profit angle.

      On the other hand, I don't want the government in it. Not because I don't want people to get "free" medicine, but because I think the government will screw it up, or worse, obtain control over the lives of the people who are supposed to be keeping it in check. It will constantly be a battle between people who are trying to give more and more away to keep

      • by Geoffrey.landis ( 926948 ) on Wednesday October 14, 2015 @02:22PM (#50728187) Homepage

        On the other hand, I don't want the government in it. Not because I don't want people to get "free" medicine, but because I think the government will screw it up, or worse, obtain control over the lives of the people who are supposed to be keeping it in check. ...

        Unfortunately, the one thing worse than having government involved is having the government not involved.

        Health care is an economic case where the assumptions that make a free market efficient don't apply. When providers have the ability to literally say "pay what we ask or die... and decide right now," there's not a lot of economic leverage available. And, worse, people making these decisions are often sick, in pain, unconscious, woozy from painkillers, or in the grips of Alzheimer's disease, and can't shop around. Unless they have insurance. But the insurance company's profit comes from kicking people off of the insurance if they get sick. The insurance companies that are most successful in figuring out ways to terminate coverage of people who are sick out-compete the ones who don't. After a while, all of the insurance companies do this-- the ones who don't go out of business.

        As a society, we have made a decision that we don't think it's right to turn people back at the emergency room just because they can't pay. So, one way or another we are paying for the health care of people who can't pay. The only question is, are we going to do this in a thought-out way? Or in a makeshift, not-thought-out way?

        • by tnk1 ( 899206 )

          I don't think it should be free market controlled. I just don't think it should be government controlled.

          There needs to be a third way.

          The free market's treatment of health care reflects the reality that to make profit on it, you must let people die. Attempting to save everyone from every condition is never going to be profitable. It may never even be *possible* profit or not.

          The government's handling of the care is less based on the need to profit, but ultimately has it's own pitfalls. People vote them

          • We can even elect the management

            This is how french social healthcare was designed after WWII. Unfortunately, the government quickly removed elected administrators and legislators took duty for the budget. But today it is still separated from State main budget: They cannot take healthcare money to bomb some random foreign country.

    • Everyone eventually gets sick and likely ends up soaking up huge medical bills. You could be perfectly healthy all your life but still wind up with cancer and an expensive treatment.

      The only alternative is some kine of Logan's Run approach, but I don't think anyone will be lining up for that.

      What you fail to consider is that what is expensive as hell today, will only get cheaper in time as technology improves. In 200 years, curing cancer might be as easy as taking some over the counter medication that
    • Mod parent down as "too insightful".
    • However, early detection can also lead to early treatment which can greatly reduce costs. For example, we spent years going from doctor to doctor to figure out what was happening with our son. After years, we got a diagnosis of Asperger's Syndrome/High Functioning Autism. He's now getting help to learn social skills that come naturally to other kids. Research has shown that the earlier the detection and the earlier intervention starts, the more effective it is. If this was able to be diagnosed from a g

  • if it ain't his, why bother with it. let the whore and her squeeze pay for and raise the thing

  • "No, sweetie, we already scanned your baby's DNA a few hours after he was born. What? No, I know you didn't ask us to. No, neither did the father. Yes, it is a little expensive. But don't worry, it's already been paid for. These nice people who work for someone named something like "Nissa" or "Phoebe" volunteered to pay for genetic scans of all the babies born in our hospital system. All they ask in return is that we send them a copy of each scan. So we do. Isn't that nice?"
  • you'd think it'd be a lot faster.
  • DNA scanning doesn't always work and at best can only give you a probability of what's wrong.
  • Except for a relatively small number of severe genetic disorders, the knowledge of what the genome says about human health is largely unknown. The problem is that genes work in networks, and each individual gene frequently works in multiple different networks at the same time. So it's not as simple as, "has gene variant X, therefore has disease Y." Instead, one person with gene variant X might have problems, while another might have no issue at all, because there are other genes that influence how gene v

  • Hi this is my first post, My son has FoxG1, read his story here http://www.foxg1.com/faces-of-... [foxg1.com]. I want this to work for us. The FoxG1 foundation has identified 160 fox children, we are in touch with CompBio at MIT to run analysis / full genome sequencing / analysis for correlations anything that helps find a cure, on the 160 DNA samples and scan public databases for finding out if incidence is higher. How do we get someone to pick the bill for 160 full sequences? I got to write to the company, mentioned
  • How about gene sampling foetuses? If done early enough, then expectant mothers can choose whether to abort. That way we can start filtering out known genetic diseases.

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